Mevalonate kinase

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Mevalonate Kinase
File:MevalonateKinase.png
Crystallographic structure of mevalonate kinase from Staphylococcus aureus.[1]
Identifiers
EC no.2.7.1.36
CAS no.9026-52-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
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NCBIproteins

An Error has occurred retrieving Wikidata item for infobox Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene.[2][3] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:

.

File:Mevalonate kinase reaction.svg
ATP + (R)-mevalonate ⇌ ADP + (R)-5-phosphomevalonate

Function

Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis.[2] As the second enzyme in the Mevalonate pathway, it catalyzes the phosphorylation of Mevalonic acid to produce Mevalonate-5-phosphate.[4] A reduction in mevalonate kinase activity to around 5-10% of its typical value is associated with the mevalonate kinase deficiency (MVD) resulting in accumulation of intermediate mevalonic acid.[5]

File:Mevalonate pathway.png
Mevalonate pathway

Clinical significance

Defects can be associated with hyperimmunoglobulinemia D with recurrent fever.[6] Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash.[2] The symptoms of the disease typically start at infancy and may be additionally triggered by stress or bacterial infection. Children with mevalonate kinase deficiency may remain undiagnosed for a long time as there is not enough scientific data at the moment to accurately diagnose children with the disease.[5]

See also

References

  1. ↑ PDB: 2X7I​; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, et al. (June 2010). "The Scottish Structural Proteomics Facility: targets, methods and outputs". Journal of Structural and Functional Genomics. 11 (2): 167–80. doi:10.1007/s10969-010-9090-y. PMC 2883930. PMID 20419351.
  2. ↑ 2.0 2.1 2.2 "Entrez Gene: mevalonate kinase".
  3. ↑ Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD (July 1992). "Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". The Journal of Biological Chemistry. 267 (19): 13229–38. doi:10.1016/S0021-9258(18)42199-0. PMID 1377680.
  4. ↑ Mulders-Manders CM, Simon A (July 2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Seminars in Immunopathology. 37 (4): 371–6. doi:10.1007/s00281-015-0492-6. PMC 4491100. PMID 25990874.
  5. ↑ 5.0 5.1 Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D (December 2013). "Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level". Rheumatology International. 33 (12): 3039–42. doi:10.1007/s00296-012-2577-z. PMID 23239036. S2CID 3220012.
  6. ↑ Online Mendelian Inheritance in Man (OMIM): 260920

Further reading

External links

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